Eur J Heart Fail. 2026 Mar 12:xuag035. doi: 10.1093/ejhf/xuag035. Online ahead of print.
ABSTRACT
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease and a leading cause of heart failure and sudden cardiac death (SCD) in young adults. Given its complex pathophysiology, phenotypic diversity, and rapidly evolving therapeutic landscape, a structured and multidisciplinary approach to care is essential. This manuscript outlines a six-pillar framework to standardize and optimize evaluation and management of HCM. The proposed model organizes HCM care into six key domains. (i) Establishing the correct diagnosis, which requires differentiation between sarcomeric HCM and phenocopies such as amyloidosis, Fabry, or mitochondrial disease, using multimodal imaging and genetic testing. (ii) Establish presence of symptoms and of left ventricular outflow tract obstruction (LVOTO), which is central to symptom evaluation, prognostication, and treatment. Dynamic assessment with exercise echocardiography when required is essential to guide management, including pharmacotherapy or septal reduction therapy. (iii) Risk stratification for SCD integrates risk scores with adjunctive imaging data to support patient-centred implantable cardioverter defibrillator decisions. (iv) Genetic evaluation and family management enable cascade testing, early detection, and counselling. (v) Management of comorbidities-including atrial fibrillation, hypertension, obesity, and sleep-disordered breathing-is integral to holistic care and symptom control. (vi) Education and lifestyle guidance focus on safe sport participation, avoidance of dehydration and vasodilators, and reproductive counselling within a multidisciplinary setting.
PMID:41818712 | DOI:10.1093/ejhf/xuag035